Clinical and Molecular Studies in Families With Inherited Eye Disease

Part of paid clinical trials in La Jolla, California.

Sponsor
National Eye Institute (NEI)
Study ID
NCT02771236
Status
Recruiting
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Conditions

  • Inherited Eye Disease

Eligibility Criteria

Sex
ALL
Age
4 Years - 120 Years
Healthy Volunteers
Not accepted

Study Details

Background: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Objective: To try to identify the genes linked to the development of inherited eye diseases. Eligibility: People ages 4 and older who have or have a family member with an inherited eye disease Design: Participants will be screened with medical history and medical records. Participants will have one visit that will take 3-4 hours. This will include: Medical and family history Eye exam: This includes the pupil being dilated. Electroretinography: A small electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in the eyes. They will watch flashing lights. Blood tests Saliva sample: They will spit into a container or have the inside of their cheek swabbed. Genetic testing will be done on participants blood or saliva. Participants may meet with the researchers to discuss their genetic tests.

Key Dates

Start date
Oct 4, 2016
Status verified
Jun 2026
Primary completion
Jan 1, 2032
Completion
Jan 1, 2032

Study Design

Enrollment
5,000 participants (estimated)

Arms

  • Arm: Participants with cataracts
    Participants with cataracts
  • Arm: Participants with corneal dystrophies
    Participants with corneal dystrophies
  • Arm: Participants with glaucoma
    Participants with glaucoma or other anterior chamber anomalies
  • Arm: Participants with lens refractive errors
    Participants with lens refractive errors including myopia and hyperopia
  • Arm: Participants with retinal degenerations
    Participants with retinal degenerations

Primary Outcome Measure

Document the clinical and genetic features of Mendelian and age related visual disorders [ Time Frame: Study duration ]

Central Contacts

Locations (3)

FacilityCityStateZIPSite coordinators
University of California, San DiegoLa JollaCalifornia92093-0603
Radha Ayyagari, Ph.D.
[email protected]
858-534-9029
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222
Duke University Eye CenterDurhamNorth Carolina27708-

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